Ring 21 chromosome: the mild end of the phenotypic spectrum
- 1 December 1986
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 30 (6) , 466-470
- https://doi.org/10.1111/j.1399-0004.1986.tb01912.x
Abstract
The case is reported of a child with the karyotype 46,XY,r(21), who presented with linear growth retardation but who appears, at age 2 years 8 months, to be developing normally mentally. There is a small number of reports of mildly affected cases of r(21), and of some with an apparently completely normal phenotype. We presume a structural and functional cytogenetic heterogeneity underlies the observed phenotypic heterogeneity in the ring 21 spectrum.Keywords
This publication has 12 references indexed in Scilit:
- Ring chromosome 21 in a phenotypically normal but infertile manClinical Genetics, 1985
- Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.Journal of Medical Genetics, 1984
- Ring chromosome 21 in a healthy woman with three spontaneous abortionsHuman Genetics, 1984
- Acute lymphoblastic leukemia in two children with a congenital chromosome anomaly: Familial inv(11)(p15q13) in one and ring chromosome No. 21 in the otherCancer Genetics and Cytogenetics, 1983
- Maternally transmitted extra ring(21) chromosome in a boy with Down's syndromeHuman Genetics, 1982
- Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitutional ring 21 chromosome in a young boyBritish Journal of Haematology, 1982
- Analysis of banding patterns in a case of ring chromosome 21American Journal of Medical Genetics, 1981
- THE CHROMOSOMAL BASIS OF HUMAN INFERTILITYBritish Medical Bulletin, 1979
- Four new cases of ring 21 and 22 including familial transmission of ring 21.Journal of Medical Genetics, 1977
- STUDIES ON HUMAN MEIOTIC CHROMOSOMES FROM TESTICULAR TISSUEThe Lancet, 1966